Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.186209210A>C | CA358950594 | CYP4V2,KLKB1 | c.1343A>C (p.Asn448Thr) n.578A>C n.6041A>C c.139A>C n.433A>C c.1340A>C (p.Asn447Thr) c.947A>C (p.Asn316Thr) | |
4 | g.186209210A>G | CA358950593 | CYP4V2,KLKB1 | c.1343A>G (p.Asn448Ser) n.578A>G n.6041A>G c.139A>G n.433A>G c.1340A>G (p.Asn447Ser) c.947A>G (p.Asn316Ser) | gnomAD v4 |
4 | g.186209210A>T | CA358950592 | CYP4V2,KLKB1 | c.1343A>T (p.Asn448Ile) n.578A>T n.6041A>T c.139A>T n.433A>T c.1340A>T (p.Asn447Ile) c.947A>T (p.Asn316Ile) | |
4 | g.186209211T>A | CA358950595 | CYP4V2,KLKB1 | c.1344T>A (p.Asn448Lys) n.579T>A n.6042T>A c.140T>A n.434T>A c.1341T>A (p.Asn447Lys) c.948T>A (p.Asn316Lys) | |
4 | g.186209211T>C | CA3162836 | CYP4V2,KLKB1 | c.1344T>C (p.Asn448=) n.579T>C n.6042T>C c.140T>C n.434T>C c.1341T>C (p.Asn447=) c.948T>C (p.Asn316=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209211T>G | CA358950596 | CYP4V2,KLKB1 | c.1344T>G (p.Asn448Lys) n.579T>G n.6042T>G c.140T>G n.434T>G c.1341T>G (p.Asn447Lys) c.948T>G (p.Asn316Lys) | |
4 | g.186209211T= | CA1519891470 | CYP4V2,KLKB1 | c.1344T= (p.Asn448=) n.579T= n.6042T= c.140T= n.434T= c.1341T= (p.Asn447=) c.948T= (p.Asn316=) | |
4 | g.186209212G>A | CA358950597 | CYP4V2,KLKB1 | c.1345G>A (p.Ala449Thr) n.580G>A n.6043G>A c.141G>A n.435G>A c.1342G>A (p.Ala448Thr) c.949G>A (p.Ala317Thr) | ClinVar gnomAD v4 |
4 | g.186209212G>C | CA358950599 | CYP4V2,KLKB1 | c.1345G>C (p.Ala449Pro) n.580G>C n.6043G>C c.141G>C n.435G>C c.1342G>C (p.Ala448Pro) c.949G>C (p.Ala317Pro) | |
4 | g.186209212G>T | CA358950598 | CYP4V2,KLKB1 | c.1345G>T (p.Ala449Ser) n.580G>T n.6043G>T c.141G>T n.435G>T c.1342G>T (p.Ala448Ser) c.949G>T (p.Ala317Ser) | |
4 | g.186209213C>A | CA358950600 | CYP4V2,KLKB1 | c.1346C>A (p.Ala449Glu) n.581C>A n.6044C>A c.142C>A n.436C>A c.1343C>A (p.Ala448Glu) c.950C>A (p.Ala317Glu) | |
4 | g.186209213C>G | CA358950601 | CYP4V2,KLKB1 | c.1346C>G (p.Ala449Gly) n.581C>G n.6044C>G c.142C>G n.436C>G c.1343C>G (p.Ala448Gly) c.950C>G (p.Ala317Gly) | |
4 | g.186209213C>T | CA358950602 | CYP4V2,KLKB1 | c.1346C>T (p.Ala449Val) n.581C>T n.6044C>T c.142C>T n.436C>T c.1343C>T (p.Ala448Val) c.950C>T (p.Ala317Val) | |
4 | g.186209214A= | CA1519891471 | CYP4V2,KLKB1 | c.1347A= (p.Ala449=) n.582A= n.6045A= c.143A= n.437A= c.1344A= (p.Ala448=) c.951A= (p.Ala317=) | |
4 | g.186209214A>C | CA442882766 | CYP4V2,KLKB1 | c.1347A>C (p.Ala449=) n.582A>C n.6045A>C c.143A>C n.437A>C c.1344A>C (p.Ala448=) c.951A>C (p.Ala317=) | dbSNP gnomAD v4 |
4 | g.186209214A>G | CA442882768 | CYP4V2,KLKB1 | c.1347A>G (p.Ala449=) n.582A>G n.6045A>G c.143A>G n.437A>G c.1344A>G (p.Ala448=) c.951A>G (p.Ala317=) | |
4 | g.186209214A>T | CA442882770 | CYP4V2,KLKB1 | c.1347A>T (p.Ala449=) n.582A>T n.6045A>T c.143A>T n.437A>T c.1344A>T (p.Ala448=) c.951A>T (p.Ala317=) | |
4 | g.186209215C>A | CA358950603 | CYP4V2,KLKB1 | c.1348C>A (p.Gln450Lys) n.583C>A n.6046C>A c.144C>A n.438C>A c.1345C>A (p.Gln449Lys) c.952C>A (p.Gln318Lys) | |
4 | g.186209215C= | CA1519891472 | CYP4V2,KLKB1 | c.1348C= (p.Gln450=) n.583C= n.6046C= c.144C= n.438C= c.1345C= (p.Gln449=) c.952C= (p.Gln318=) | |
4 | g.186209215C>G | CA358950604 | CYP4V2,KLKB1 | c.1348C>G (p.Gln450Glu) n.583C>G n.6046C>G c.144C>G n.438C>G c.1345C>G (p.Gln449Glu) c.952C>G (p.Gln318Glu) | gnomAD v4 |
4 | g.186209215C>T | CA343717 | CYP4V2,KLKB1 | c.1348C>T (p.Gln450Ter) n.583C>T n.6046C>T c.144C>T n.438C>T c.1345C>T (p.Gln449Ter) c.952C>T (p.Gln318Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.186209216A= | CA1519891473 | CYP4V2,KLKB1 | c.1349A= (p.Gln450=) n.584A= n.6047A= c.145A= n.439A= c.1346A= (p.Gln449=) c.953A= (p.Gln318=) | |
4 | g.186209216A>C | CA358950605 | CYP4V2,KLKB1 | c.1349A>C (p.Gln450Pro) n.584A>C n.6047A>C c.145A>C n.439A>C c.1346A>C (p.Gln449Pro) c.953A>C (p.Gln318Pro) | |
4 | g.186209216A>G | CA358950606 | CYP4V2,KLKB1 | c.1349A>G (p.Gln450Arg) n.584A>G n.6047A>G c.145A>G n.439A>G c.1346A>G (p.Gln449Arg) c.953A>G (p.Gln318Arg) | dbSNP gnomAD v4 |
4 | g.186209216A>T | CA358950607 | CYP4V2,KLKB1 | c.1349A>T (p.Gln450Leu) n.584A>T n.6047A>T c.145A>T n.439A>T c.1346A>T (p.Gln449Leu) c.953A>T (p.Gln318Leu) | |
4 | g.186209217A= | CA1519891474 | CYP4V2,KLKB1 | c.1350A= (p.Gln450=) n.585A= n.6048A= c.146A= n.440A= c.1347A= (p.Gln449=) c.954A= (p.Gln318=) | |
4 | g.186209217A>C | CA358950608 | CYP4V2,KLKB1 | c.1350A>C (p.Gln450His) n.585A>C n.6048A>C c.146A>C n.440A>C c.1347A>C (p.Gln449His) c.954A>C (p.Gln318His) | |
4 | g.186209217A>G | CA442882781 | CYP4V2,KLKB1 | c.1350A>G (p.Gln450=) n.585A>G n.6048A>G c.146A>G n.440A>G c.1347A>G (p.Gln449=) c.954A>G (p.Gln318=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186209217A>T | CA358950609 | CYP4V2,KLKB1 | c.1350A>T (p.Gln450His) n.585A>T n.6048A>T c.146A>T n.440A>T c.1347A>T (p.Gln449His) c.954A>T (p.Gln318His) | |
4 | g.186209218G>A | CA358950611 | CYP4V2,KLKB1 | c.1351G>A (p.Gly451Arg) n.586G>A n.6049G>A c.147G>A n.441G>A c.1348G>A (p.Gly450Arg) c.955G>A (p.Gly319Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186209218G>C | CA3162837 | CYP4V2,KLKB1 | c.1351G>C (p.Gly451Arg) n.586G>C n.6049G>C c.147G>C n.441G>C c.1348G>C (p.Gly450Arg) c.955G>C (p.Gly319Arg) | dbSNP ExAC gnomAD v2 |
4 | g.186209218G= | CA1519891475 | CYP4V2,KLKB1 | c.1351G= (p.Gly451=) n.586G= n.6049G= c.147G= n.441G= c.1348G= (p.Gly450=) c.955G= (p.Gly319=) | |
4 | g.186209218G>T | CA358950610 | CYP4V2,KLKB1 | c.1351G>T (p.Gly451Trp) n.586G>T n.6049G>T c.147G>T n.441G>T c.1348G>T (p.Gly450Trp) c.955G>T (p.Gly319Trp) | |
4 | g.186209219G>A | CA358950612 | CYP4V2,KLKB1 | c.1352G>A (p.Gly451Glu) n.587G>A n.6050G>A c.148G>A n.442G>A c.1349G>A (p.Gly450Glu) c.956G>A (p.Gly319Glu) | |
4 | g.186209219G>C | CA358950613 | CYP4V2,KLKB1 | c.1352G>C (p.Gly451Ala) n.587G>C n.6050G>C c.148G>C n.442G>C c.1349G>C (p.Gly450Ala) c.956G>C (p.Gly319Ala) | |
4 | g.186209219G>T | CA358950614 | CYP4V2,KLKB1 | c.1352G>T (p.Gly451Val) n.587G>T n.6050G>T c.148G>T n.442G>T c.1349G>T (p.Gly450Val) c.956G>T (p.Gly319Val) | |
4 | g.186209220G>A | CA112135201 | CYP4V2,KLKB1 | c.1353G>A (p.Gly451=) n.588G>A n.6051G>A c.149G>A n.443G>A c.1350G>A (p.Gly450=) c.957G>A (p.Gly319=) | dbSNP gnomAD v4 |
4 | g.186209220G>C | CA442882794 | CYP4V2,KLKB1 | c.1353G>C (p.Gly451=) n.588G>C n.6051G>C c.149G>C n.443G>C c.1350G>C (p.Gly450=) c.957G>C (p.Gly319=) | |
4 | g.186209220G= | CA1519891476 | CYP4V2,KLKB1 | c.1353G= (p.Gly451=) n.588G= n.6051G= c.149G= n.443G= c.1350G= (p.Gly450=) c.957G= (p.Gly319=) | |
4 | g.186209220G>T | CA3162838 | CYP4V2,KLKB1 | c.1353G>T (p.Gly451=) n.588G>T n.6051G>T c.149G>T n.443G>T c.1350G>T (p.Gly450=) c.957G>T (p.Gly319=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209221C>A | CA358950615 | CYP4V2,KLKB1 | c.1354C>A (p.Arg452Ser) n.589C>A n.6052C>A c.150C>A n.444C>A c.1351C>A (p.Arg451Ser) c.958C>A (p.Arg320Ser) | |
4 | g.186209221C= | CA1519891477 | CYP4V2,KLKB1 | c.1354C= (p.Arg452=) n.589C= n.6052C= c.150C= n.444C= c.1351C= (p.Arg451=) c.958C= (p.Arg320=) | |
4 | g.186209221C>G | CA358950616 | CYP4V2,KLKB1 | c.1354C>G (p.Arg452Gly) n.589C>G n.6052C>G c.150C>G n.444C>G c.1351C>G (p.Arg451Gly) c.958C>G (p.Arg320Gly) | gnomAD v4 |
4 | g.186209221C>T | CA3162839 | CYP4V2,KLKB1 | c.1354C>T (p.Arg452Cys) n.589C>T n.6052C>T c.150C>T n.444C>T c.1351C>T (p.Arg451Cys) c.958C>T (p.Arg320Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209222G>A | CA3162840 | CYP4V2,KLKB1 | c.1355G>A (p.Arg452His) n.590G>A n.6053G>A c.151G>A n.445G>A c.1352G>A (p.Arg451His) c.959G>A (p.Arg320His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186209222G>C | CA358950617 | CYP4V2,KLKB1 | c.1355G>C (p.Arg452Pro) n.590G>C n.6053G>C c.151G>C n.445G>C c.1352G>C (p.Arg451Pro) c.959G>C (p.Arg320Pro) | |
4 | g.186209222G= | CA1519891478 | CYP4V2,KLKB1 | c.1355G= (p.Arg452=) n.590G= n.6053G= c.151G= n.445G= c.1352G= (p.Arg451=) c.959G= (p.Arg320=) | |
4 | g.186209222G>T | CA358950618 | CYP4V2,KLKB1 | c.1355G>T (p.Arg452Leu) n.590G>T n.6053G>T c.151G>T n.445G>T c.1352G>T (p.Arg451Leu) c.959G>T (p.Arg320Leu) | |
4 | g.186209223C>A | CA442882807 | CYP4V2,KLKB1 | c.1356C>A (p.Arg452=) n.591C>A n.6054C>A c.152C>A n.446C>A c.1353C>A (p.Arg451=) c.960C>A (p.Arg320=) | |
4 | g.186209223C>G | CA442882811 | CYP4V2,KLKB1 | c.1356C>G (p.Arg452=) n.591C>G n.6054C>G c.152C>G n.446C>G c.1353C>G (p.Arg451=) c.960C>G (p.Arg320=) |